Publicaciones en colaboración con investigadores/as de Universitat de Barcelona (36)

2024

  1. Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004336

  2. Exploring the genetics of airflow limitation in lung function across the lifespan – a polygenic risk score study

    eClinicalMedicine, Vol. 75

  3. The Human Phenotype Ontology in 2024: phenotypes around the world

    Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346

2023

  1. A long non-coding RNA that harbors a SNP associated with type 2 diabetes regulates the expression of TGM2 gene in pancreatic beta cells

    Frontiers in Endocrinology, Vol. 14

  2. Autosomal dominant polycystic kidney disease in young adults

    Clinical Kidney Journal, Vol. 16, Núm. 6, pp. 985-995

  3. In vivo sensitization to gliadin by oral administration

    Methods in Cell Biology (Academic Press Inc.), pp. 51-57

  4. Inhibition of YTHDF1 by salvianolic acid overcomes gluten-induced intestinal inflammation

    Gut

2022

  1. Gluten-induced RNA methylation changes regulate intestinal inflammation via allele-specific XPO1 translation in epithelial cells

    Gut, Vol. 71, Núm. 1, pp. 68-77

2021

  1. Fatty liver index as a predictor for type 2 diabetes in subjects with normoglycemia in a nationwide cohort study

    Scientific Reports, Vol. 11, Núm. 1

  2. Leigh syndrome associated with TRMU gene mutations

    Molecular Genetics and Metabolism Reports, Vol. 26

  3. Paediatric Escherichia coli bacteraemia presentations and high-risk factors in the emergency department

    Acta Paediatrica, International Journal of Paediatrics, Vol. 110, Núm. 3, pp. 1032-1037

2020

  1. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

  2. Incidence of diabetes mellitus in Spain as results of the nation-wide cohort di@bet.es study

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2016

  1. Prevalencia, diagnóstico, tratamiento y control de la hipertensión arterial en España. Resultados del estudio Di@bet.es

    Revista Espanola de Cardiologia, Vol. 69, Núm. 6, pp. 572-578

2015

  1. Bacteremia in previously healthy children in Emergency Departments: clinical and microbiological characteristics and outcome

    European Journal of Clinical Microbiology and Infectious Diseases, Vol. 34, Núm. 3, pp. 453-460

  2. Patterns of somatic uniparental disomy identify novel tumor suppressor genes in colorectal cancer

    Carcinogenesis, Vol. 36, Núm. 10, pp. 1103-1110

2014

  1. Modifications of the homeostasis model assessment of insulin resistance index with age

    Acta Diabetologica, Vol. 51, Núm. 6, pp. 917-925

  2. Prevalence of plasma lipid abnormalities and its association with glucose metabolism in Spain: The di@bet.es study

    Clinica e Investigacion en Arteriosclerosis, Vol. 26, Núm. 3, pp. 107-114

  3. The efficiency of telemedicine to optimize metabolic control in patients with type 1 diabetes mellitus: Telemed study

    Diabetes Technology and Therapeutics, Vol. 16, Núm. 7, pp. 435-441